We teach how to identify if you are at risk for the BRCA genetic mutation. If you carry this “breast cancer gene mutation” you are at an increased risk for breast and other certain types of cancer.

 

Questions for your Breast Surgeon and Medical Oncologist:

  • Do I qualify for BRCA genetic testing?
  • If so, will you order genetic testing for me?
  • Would genetic testing before surgery change our plans?
  • What is the downside of BRCA testing?
  • Will you also order “Multi-Gene Panel”?

What is “The Breast Cancer Gene?”

The BRCA (Breast Cancer) gene is commonly referred to as “The Breast Cancer Gene.” If someone inherits a broken version of this gene (known as a “mutation”) at conception, they carry a significantly increased lifetime risk of breast cancer and ovarian cancer. This gene “mutation” can come from either their mother or father. Most breast cancers are not the result of BRCA mutations. In fact, it is estimated that BRCA and similar genetic mutations cause only 5 to 10% of all breast cancers.

 

If you are a woman and test “positive” for a BRCA mutation, your physicians can advise you how to reduce your risk of developing breast and ovarian cancer in the future. There are excellent prevention strategies to lessen your cancer risk. There are also enhanced screening options to detect cancers earlier when they are more curable. You must be your own advocate to find out if you are a candidate for genetic testing.

 

This is the condition that was widely reported in the media when celebrity Angelina Jolie announced that she had mastectomies and reconstruction of both her breasts to reduce her personal risk of developing breast cancer. Although she did not have breast cancer, she tested positive for the BRCA mutation. She underwent testing because she had a strong history of breast and ovarian cancer in her family.

 

Should I ask about BRCA testing before surgery?

You need to ask yourself this question, “If I have cancer and carry a BRCA mutation, would I change my mind about surgery and have both breasts removed to reduce my risk of having another new breast cancer in the future?” If the answer is yes or maybe, you should consider undergoing the testing before your recommended surgery. If the answer is no, you can undergo testing after surgery, if desired.

 

The results can take, on average, about two weeks to be finalized. Be aware that waiting for these results can delay your surgical plans. Some women who qualify for BRCA genetic testing and are proven to have this broken gene may choose “risk-reducing,” bilateral or “double” mastectomies. These can be difficult decisions to make and are made in consultation with your breast cancer surgeon. Raise the question of genetic testing during your initial breast surgery consultation. If you do carry the BRCA genetic mutation you may choose a different surgical option for treating your breast cancer. Learn more at our video lesson “Mastectomy: One Side or Both?” (here).

 

Who qualifies for BRCA and genetic testing?

Both men and women are at equal risk for carrying the BRCA mutation. Women are more commonly identified as “High Risk” for BRCA mutations because they may have been diagnosed with breast or ovarian cancer and are more often asked if they have a family history of these cancers. But it is important that men also learn if they are at high risk for cancer causing mutations and pursue genetic counseling. Below is a very simplified list of the most common qualifying risk factors.

 

You may qualify for BRCA genetic testing if you have:

  • Breast cancer diagnosed at 50 or younger
  • Ovarian cancer at any age
  • A family member with a “BRCA mutation”
  • A strong family history of breast, ovarian, prostate or pancreatic cancer
  • Breast cancer in both breasts
  • Male breast cancer at any age
  • “Triple negative” breast cancer before age 60
  • Ashkenazi Jewish ancestry and breast or pancreatic cancer

 

We list detailed references and links below to several national guidelines. Always obtain formal genetic counseling with a qualified physician or certified genetic counselor before undergoing BRCA and genetic testing.

 

Take this Hereditary Cancer Quiz.

heredtiary cancer quiz

 

Is the cost covered by health insurance?

There are specific criteria to “qualify” for genetic testing and have it paid for by insurance. It is important to note that even if you do not qualify for testing, you can pay for the test yourself. Specifically ask for “Multi-Gene Panel Testing” to be added to the BRCA test. This “panel” evaluates for other cancer causing genetic mutations and is usually covered by insurance at no additional cost. Genetic counseling and BRCA testing, if appropriate, is considered a preventive service today under the Affordable Care Act. Because of this, the majority of patients who meet these specific testing criteria pay nothing out of pocket.

 

What is my specific cancer risk with a BRCA mutation?

If you carry either the BRCA1 or BRCA2 mutation, you have a significantly increased lifetime risk of developing certain cancers. The specific risk by cancer type varies by which gene mutation (BRCA1 or 2) you carry. We outline the generally accepted lifetime risk for different types of cancer below. We are learning more every day how to better define the implications of genetic mutations.

 

Lifetime cancer risks for BRCA mutations:

Cancer Type BRCA (+) General Population
Breast Cancer 40-85% 8-12%
Ovarian Cancer 10-60% 1-2%
Prostate Cancer 20-40% 20%
Male Breast Cancer 5-10% 1%
Pancreatic Cancer 1-7% 5%

 

 

How can BRCA and Genetic Testing be a “gift” to your family?

If you are a “mutation carrier,” your family members are also at risk for carrying the exact same genetic mutation. The exact risk depends upon how closely they are related to you. Germline mutations can run in families for hundreds or even thousands of years. So if you have the BRCA mutation, you inherited it from one of your parents. That side of your family (maternal or paternal) would all be at risk. If you have children, each child will have a 50% chance of also carrying the same broken gene you inherited.

 

Some people undergo testing solely to share with loved ones if a mutation runs in the family. If it does, others can seek genetic counseling about their personal risk of carrying the same cancer-causing mutation. This knowledge can potentially save lives in your family.

 

If I do not have the mutation, could I still be at high risk?

Yes, but it is reassuring if you test “negative” for BRCA mutations. Genetic testing is relatively new to cancer care. There are other gene mutations that can be tested for and will be discovered in the future. If you test “negative” for the BRCA mutation, you may still be at an increased risk for cancer if you have a strong family history of cancer or have other risk factors. Genetic counseling is essential to help individuals assess their own, unique risk for cancer-causing genes. Most of those diagnosed with breast cancer do not carry BRCA mutations. In fact, only 5 to 10% of all breast cancers are associated with a genetic cancer-causing mutation that we can currently identify.

 

More information about understanding personal cancer risk after a “negative” genetic panel test is well outlined (here) at www.breast360.org.

 

Multi-Gene Panel Testing

Although the majority of “hereditary” breast cancer is likely due to the BRCA genes, other gene mutations could be present that also cause an increased risk for breast and other types of cancers. “Multi-Gene Panel Tests” evaluate multiple other cancer-causing genes at the same time as BRCA testing. We recommend considering “Panel Testing” be included with BRCA testing. There is usually no additional cost for adding this test to BRCA genetic screening.

 

Calculate your personal cancer risk if you carry a mutation:

Ask2me.com is the most sophisticated resource available for patients and physicians to determine their own lifetime risk of developing cancers if they carry a cancer causing genetic mutation. Many want to know this before undergoing genetic testing for the BRCA mutation or any other cancer causing mutation. Such information can assist in deciding whether or not to pursue genetic testing if you are found to be at risk and qualify for genetic testing. This website was created by Hughes Lab and BayesMendel Lab, both affiliated with Harvard University.

 

What are the downsides to genetic testing?

It is important to note that if someone carries the BRCA mutation, that does not mean they will develop cancer. Genetic testing can open a “Pandora’s Box” of unanswerable questions. Everyone has a unique philosophy of life and belief system. Many decline genetic testing for personal reasons. Unfortunately, too many men and women at risk for genetic mutations are never offered genetic counselling. A recent study in the Journal of the American Medical Association found that many women with newly diagnosed breast cancer and at a high risk for genetic mutations are not offered genetic counseling. (here) This is why the Breast Cancer School for Patients encourages you to engage your physicians about your personal risk for genetic mutations.

 

Patient-Friendly References:

This video for patients from Myriad Genetics is an excellent overview about genetic testing, BRCA mutations, and how they are managed.

 

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To view the video click on the image or (here). Myriad Genetics is global leader in genetic testing and personalized medicine.

 

Their page on “NCCN Guidelines for Genetic Counseling” (here) is a good starting point for those at risk for BRCA and other genetic mutations. Their website is one of the best information sources for patients. Facing Our Risk of Cancer Empowered (FORCE) is the leading advocacy group for those at risk for Hereditary Breast and Ovarian Cancers (HBOC).

 

Their “BRCA Cancer Risk and Testing Fact Sheet” (here) is an excellent resource to learn more about genetic testing. The National Cancer Institute is a governmental agency dedicated to distributing information to the public about cancer and cancer research trials.

 

This “Patient Page” on “Testing for BRCA1/2 Mutation” (here) summaries Risk Factors and Genetic Testing. The Journal of the American Medical Association is a leading medical publication from the American Medical Association.

 

More Detailed References:

This consensus statement (here) “Consensus Guideline on Hereditary Genetic Testing for Patients With and Without Breast Cancer” outlines who should consider BRCA and Genetic Panel testing. The American Society of Breast Surgeons is a leading organization of surgeons who treat diseases of the breast.

 

If you want to get deep into the details about BRCA and genetic testing, this free 70-page pdf document, “Genetic/Familial High Risk Assessment: Breast and Ovarian Cancer,” has guidelines to help clinicians identify and manage those with breast and ovarian cancer causing genes. You can easily register (here) as a non-professional to get access. Once registered and logged in, click (here) to view this document.

 

 

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